Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease. Other manifestations, including airway disease or skin disorders, have also been described. A 44-year-old woman presented to our emergency department with dyspnea and respiratory in...

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Detalles Bibliográficos
Autores principales: Milger, Katrin, Holdt, Lesca Miriam, Teupser, Daniel, Huber, Rudolf Maria, Behr, Jürgen, Kneidinger, Nikolaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428364/
https://www.ncbi.nlm.nih.gov/pubmed/26005342
http://dx.doi.org/10.2147/COPD.S80173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428364/
https://www.ncbi.nlm.nih.gov/pubmed/26005342
http://dx.doi.org/10.2147/COPD.S80173

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